Varaico: Literature-Extracted Genetic Variants

MYBPC3

1,762 papers

RefSeq Summary

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle....

Pfam Domains

I-setaa 10–94UCSCImmunoglobulin I-set domain

I-setaa 156–256UCSCImmunoglobulin I-set domain

THBaa 320–353UCSCTri-helix bundle domain

I-setaa 363–449UCSCImmunoglobulin I-set domain

I-setaa 454–538UCSCImmunoglobulin I-set domain

I-setaa 545–628UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein C3

HGNC Previous Symbol

CMH4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000256.3

p.Q791insFs

c.2372dupA

Surrounding Variants

7 papers

NM_000256.3

p.Q791fs

c.2371_2372fs

1 paper

NM_000256.3

p.Q791H

c.2373G>C

172 papers

NM_000256.3

p.Q791insFs

c.2373dupG

31 papers

NM_000256.3

p.W792R

c.2374T>C

31 papers

NM_000256.3

p.W792R

c.2374T>A

48 papers

NM_000256.3

p.W792fs

c.2374_2375fs

1 paper

NM_000256.3

p.Q791insFs

c.2372_2373insG

1 paper

NM_000256.3

p.W792L

c.2375G>T

6 papers

NM_000256.3

p.W792*

c.2375G>A

13 papers

NM_000256.3

p.Q791*

c.2371C>T

1 paper

NM_000256.3

p.Q791insFs

c.2371_2372ins8

1 paper

NM_000256.3

p.Q791_W792insFs

c.2373_2374dupGT